My research involves investigating new technologies for use in clinical genetic testing. I am also interested in identifying novel genetic variants in families with rare diseases.
Burden of Common Complex Disease Variants in the Exomes of Two Healthy Centenarian Brothers. Tindale LC and Zeng A and Bretherick KL and Leach S and Thiessen N and Brooks-Wilson AR DOI: 10.1159/000430462 PubMed: 26066993 2015
Functional characterization of genetic polymorphisms in the H2AFX distal promoter. Bretherick KL and Leach S and Brooks-Wilson AR DOI: 10.1016/j.mrfmmm.2014.05.012 PubMed: 25847270 2014
Sex- and subtype-specific analysis of H2AFX polymorphisms in non-Hodgkin lymphoma. Bretherick KL and Schuetz JM and Morton LM and Purdue MP and Conde L and Gallagher RP and Connors JM and Gascoyne RD and Berry BR and Armstrong B and Kricker A and Vajdic CM and Grulich A and Hjalgrim H and Smedby KE and Skibola CF and Rothman N and Spinelli JJ and Brooks-Wilson AR DOI: 10.1371/journal.pone.0074619 PubMed: 24069324 2013
Genetic polymorphisms at TIMP3 are associated with survival of adenocarcinoma of the gastroesophageal junction. Bashash M and Shah A and Hislop G and Treml M and Bretherick K and Janoo-Gilani R and Leach S and Le N and Bajdik C and Brooks-Wilson A DOI: 10.1371/journal.pone.0059157 PubMed: 23527119 2013
Elevated circulating t(14;18) translocation levels prior to diagnosis of follicular lymphoma. Bretherick KL and Bu R and Gascoyne RD and Connors JM and Spinelli JJ and Brooks-Wilson AR DOI: 10.1182/blood-2010-08-304048 PubMed: 21183699 12/2010
Genetic variation within the hypothalamus-pituitary-ovarian axis in women with recurrent miscarriage. Hanna CW and Bretherick KL and Liu CC and Stephenson MD and Robinson WP DOI: 10.1093/humrep/deq211 PubMed: 20716560 10/2010
Fertility and aging: do reproductive-aged Canadian women know what they need to know? Bretherick KL and Fairbrother N and Avila L and Harbord SH and Robinson WP DOI: 10.1016/j.fertnstert.2009.01.064 PubMed: 19296943 05/2010
Telomere length and reproductive aging. Hanna CW and Bretherick KL and Gair JL and Fluker MR and Stephenson MD and Robinson WP DOI: 10.1093/humrep/dep007 PubMed: 19202142 05/2009
Estrogen receptor alpha gene polymorphisms are associated with idiopathic premature ovarian failure. Bretherick KL and Hanna CW and Currie LM and Fluker MR and Hammond GL and Robinson WP DOI: 10.1016/j.fertnstert.2007.03.008 PubMed: 17706202 02/2008
Skewed X-chromosome inactivation is associated with primary but not secondary ovarian failure. Bretherick KL and Metzger DL and Chanoine JP and Panagiotopoulos C and Watson SK and Lam WL and Fluker MR and Brown CJ and Robinson WP DOI: 10.1002/ajmg.a.31679 PubMed: 17431892 05/2007
FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Bretherick KL and Fluker MR and Robinson WP DOI: 10.1007/s00439-005-1326-8 PubMed: 16078053 08/2005
The association of skewed X chromosome inactivation with aneuploidy in humans. Bretherick K and Gair J and Robinson WP DOI: 10.1159/000086898 PubMed: 16192703 2005
Current Projects My current research focuses on the validation and implementation of new technologies for clinical genetic testing. We are currently evaluating next generation sequencing (NGS) platforms for use in the clinical lab. While traditional genetic testing methods sequence only one gene at a time, NGS technology enables examination of multiple genes, or even all in the genes in the genome, with a single test. This allows fast and accurate diagnosis of conditions where a specific gene defect is suspected and may also be used to identify the genetic causes of conditions when the specific gene is not known. Implementing NGS testing in the Molecular Genetics Lab will allow us to improve and expand the scope of clinical genetic testing available in BC.
Implementation of NGS technologies allows discovery of disease genes in families with rare diseases for which a diagnosis cannot be determined. Identifying genetic causes for rare diseases in families will alleviate uncertainty of diagnosis, provide basis for genetic counselling regarding family planning and may provide insight into therapy and treatment.
Human DNA testing could improve outcomes for patients with COVID-19.
That’s the key idea put forth in preliminary research posted this month to bioRxiv that highlights the potential benefits of testing COVID-19 patients for genetic variants of ACE2—the protein identified as the point-of-entry for the SARS-COV-2 virus into human cells.
Congratulations to the BC Children's and BC Women's investigators who were awarded funding through the highly competitive Canadian Institutes of Health Research (CIHR) Project Grant Fall 2019 competition.
A new study suggests that specialized immune cells that dampen inflammation and help repair the gut could be used as a potential therapy for children dealing with the painful symptoms of inflammatory bowel disease.
We believe there’s nothing we can’t do with your support. It can take years to turn scientific breakthrough into new interventions and treatments. Funding helps speed the pace of change. When given the resources, we can bring transformative therapies – and hope – out of the laboratory and into the clinic to save and improve children’s lives.